Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

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dc.contributor.authorShamseldin, Hanan E
dc.contributor.authorAlshammari, Muneera
dc.contributor.authorAl-Sheddi, Tarfa
dc.contributor.authorSalih, Mustafa A
dc.contributor.authorAlkhalidi, Hisham
dc.contributor.authorKentab, Amal
dc.contributor.authorRepetto, Gabriela
dc.contributor.authorHashem, Mais
dc.contributor.authorAlkuraya, Fowzan S
dc.date.accessioned2017-05-26T14:42:23Z
dc.date.available2017-05-26T14:42:23Z
dc.date.issued2012
dc.descriptionCentro de Genética y Genómica
dc.description.abstractOBJECTIVE: To investigate the utility of autozygome analysis and exome sequencing in a cohort of patients with suspected or confirmed mitochondrial encephalomyopathy. METHODS: Autozygome was used to highlight candidate genes for direct sequencing in 10 probands, all born to consanguineous parents. Autozygome was also used to filter the variants from exome sequencing of four probands. RESULTS: In addition to revealing mutations in known mitochondrial genes, the analysis revealed the identification of two novel candidate disease genes: MFF and FARS2, encoding the mitochondrial fission factor and phenylalanyl-tRNA synthetase, respectively. INTERPRETATION: These findings expand the repertoire of genes that are mutated in patients with mitochondrial disorders and highlight the value of integrating genomic approaches in the evaluation of these patients.
dc.format.extent8
dc.identifier.citationJ Med Genet. 2012 Apr;49(4):234-41.
dc.identifier.urihttp://hdl.handle.net/11447/1343
dc.identifier.urihttp://dx.doi.org/10.1136/jmedgenet-2012-100836
dc.language.isoen_US
dc.publisherBMJ Publishing Group
dc.subjectGenomics
dc.subjectMitochondrial Diseases/genetics
dc.subjectBrain/pathology
dc.subjectHumans
dc.subjectMutation
dc.subjectMembrane Proteins/genetics
dc.titleGenomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
dc.typeArtículo

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